Canonical Allele Identifier: CA562717113

Gene: FBN2

Linked Data

• dbSNP Id: rs1411643062
• gnomAD v2: 5-127636498-G-A
• gnomAD v4: 5-128300806-G-A
• MyVariant Identifiers: chr5:g.127636498G>A (hg19) ; chr5:g.128300806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300806G>A , CM000667.2:g.128300806G>A	GRCh38
NC_000005.9:g.127636498G>A , CM000667.1:g.127636498G>A	GRCh37
NC_000005.8:g.127664397G>A	NCBI36
NG_008750.1:g.242238C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2950+11C>T
ENST00000703785.1:n.2869+11C>T
ENST00000262464.9:c.6166+11C>T MANE Select	ENSP00000262464.4:n.6166+11C>T
ENST00000262464.8:c.6166+11C>T	ENSP00000262464.4:n.6166+11C>T
ENST00000508053.5:c.6166+11C>T	ENSP00000424571.1:n.6166+11C>T
ENST00000619499.4:c.6163+11C>T	ENSP00000482132.1:n.6163+11C>T
NM_001999.3:c.6166+11C>T	NP_001990.2:n.6166+11C>T
XM_017009228.2:c.6013+11C>T	XP_016864717.1:n.6013+11C>T
NM_001999.4:c.6166+11C>T MANE Select	NP_001990.2:n.6166+11C>T